To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

In recent years, minimally invasive technology has been at the forefront of advancing various disciplines due to its unique advantages. With the development of endoscopic techniques, low-temperature plasma technology, and balloon dilation methods, the application of minimally invasive surgery in pediatric otolaryngology has increased significantly in clinical practice. The primary objective of minimally invasive techniques is to preserve normal anatomical structures as much as possible, reduce tissue damage associated with surgery, lower surgical risks, accelerate postoperative recovery, and achieve surgical outcomes that are comparable to or even better than those obtained through conventional procedures. In the future, the development of minimally invasive surgery must be aimed at pursuing the maximum benefit for patients, and operations will be more scientific, functional, comfortable, and diversified. The author believes that the development of minimally invasive surgery is inseparable from multidisciplinary cooperation, including clinicians, engineers, and other professionals in different fields. Only by working together can we jointly promote the development of minimally invasive surgery technology and provide patients with more accurate, efficient, and safe treatment options.
Humans ; Minimally Invasive Surgical Procedures/methods* ; Child ; Otorhinolaryngologic Diseases/surgery* ; Endoscopy ; Otorhinolaryngologic Surgical Procedures/methods*

Objective:To explore the causes and preventive measures of respiratory arrest following general anesthesia in children with obstructive sleep apnea （OSA）, in order to enhance the safety of OSA surgeries under general anesthesia. Methods:A retrospective analysis was conducted on the clinical and follow-up data of four pediatric cases that experienced respiratory arrest after general anesthesia for OSA at Shenzhen Hospital of Southern Medical University from March 2020 to March 2022. Results:All four children exhibited varying degrees of decreased blood oxygen saturation, cyanosis, and loss of consciousness after OSA surgery under general anesthesia, with one case experiencing respiratory and cardiac arrest. Through emergency rescue measures such as oxygen supplementation, suctioning, positive pressure ventilation, awakening, and cardiopulmonary resuscitation, all four children were stabilized. Follow-up after 2 to 6 months showed no complications. The main reasons for the occurrence are analyzed as: residual anesthetic drugs, characteristics of the OSA disease, and the unique aspects of the pediatric population. Conclusion:Children undergoing general anesthesia for OSA should be closely monitored for vital signs after surgery. If respiratory suppression occurs, active rescue measures should be taken to avoid serious consequences.
Humans ; Sleep Apnea, Obstructive/surgery* ; Anesthesia, General/adverse effects* ; Retrospective Studies ; Child ; Postoperative Complications/prevention & control* ; Male ; Female ; Child, Preschool

This case report outlines the treatment of an 11-year-old female who underwent adenotonsillectomy six years ago for snoring but experienced postoperative inefficacy. Her symptoms worsened two weeks before readmission, with increased snoring and sleep apnea, disabling her from lying down to sleep. She was readmitted on December 1, 2023, and diagnosed with severe obstructive sleep apnea hypopnea syndrome and hypercapnia. Automatic BiPAP alleviated her symptoms, with sleep breathing parameters normalizing during treatment. Follow-up at one month showed significant acceleration in her growth and resolution of her hypersomnolence issue.
Humans ; Female ; Child ; Hypercapnia/complications* ; Sleep Apnea, Obstructive/complications* ; Positive-Pressure Respiration ; Noninvasive Ventilation

Drug-induced sleep endoscopy （DISE） is an endoscopic examination performed under conditions similar to human physiological sleep induced by drugs. In recent years, its clinical application has become increasingly widespread. This article reviews the research progress on the indications, anesthesia, and outcome determination of pediatric DISE, providing a basis for the application of pediatric DISE.
Humans ; Child ; Sleep Apnea, Obstructive/diagnosis* ; Endoscopy/methods* ; Sleep

Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.

Objective To investigate the value of dynamic contrast-enhanced magnetic resonance imaging(DCE-MRI)parameters in evaluating the short-term prognosis of laryngeal cancer patients after postoperative radiotherapy.Methods A case-control study was performed on 127 laryngeal cancer patients admitted to our hospital from January 2021 to December 2023.The patients underwent different tumor treatment followed by radical radiotherapy.According to tumor recurrence or not,they were divided into a recurrence group(n=50)and a non-recurrence group(n=77).DCE-MRI parameters,such as volume transfer constant(Ktrans),rate constant(Kep),and volume fraction of extracellular extravascular space(Ve),and clinical data were compared between the 2 groups.Multivariate logistic regression analysis was used to identify influencing factors for short-term prognosis after radiotherapy.Receiver operating characteristic(ROC)curves were plotted to evaluate the predictive efficacy of DCE-MRI parameters,and the area under the curve(AUC)was calculated.Results The recurrence group had significantly larger proportions of positive surgical margins,preoperative maximum lesion diameter≥4 cm,ulcerative lesions,stages N1～N3,and advanced stages Ⅲ～Ⅳ,and obviously higher Ktrans and Kep values but lower Ve valus than the non-recurrence group(P<0.05).Multivariate logistic regression analysis indicated that positive surgical margins,stages N1～N3,Ktrans,and Kep were independent risk factors for short-term prognosis,while Ve was a protective factor(P<0.05).ROC curve analysis showed that the AUC value of combination of Ktrans,Kep and Ve and of above 5 indicators in predicting short-term prognosis of postoperative radiotherapy for laryngeal cancer was 0.920(95%CI:0.858～0.961)and 0.923(95%CI:0.862～0.963),respectively.Though the AUC value of combined 3 parameters was significantly higher than that of the single indicator alone(P<0.05),there was no difference in the value between the combination of 3 parameters and the combined application of the 5 indicators.Conclusion DCE-MRI parameters Ktrans,Kep,and Ve are closely associated with short-term prognosis of postoperative radiotherapy for laryngeal cancer.Their combination has a good predictive efficacy for the short-term prognosis of the patients.

OBJECTIVE To explore the short-term efficacy,safety and related influencing factors of subcutaneous immunotherapy(SCIT)in children with allergic rhinitis(AR).METHODS Retrospective analyzed the clinical data of 147 children with AR who underwent SCIT at Shenzhen Hospital of Southern Medical University from August 2020 to May 2024.The clinical characteristics and laboratory parameters were collected,the visual analogue scale(VAS),total symptom score(TSS),total medication score(TMS)and combined symptom medication score(CSMS)were compared at the baseline and 3,6 and 12 months after treatment.The incidence of local adverse reactions(LRs)and systemic adverse reactions(SRs)during treatment was also documented.RESULTS A total of 147 children with AR aged 5-18 years were included in the study.A significant reduction was observed in VAS,TSS,TMS and CSMS at months 3,6 and 12 of follow up compared with baseline(all P<0.001),and the short-term onset time was months 3 after treatment.The level of VitD3 in the effective group was significantly higher than that in the ineffective group(P<0.001).Serum VitD3 level was negatively correlated with clinical symptom(R=-0.3,P=0.026).The total number of injections in 147 children was 3201.LRs occurred in 52 children(35.4％),the number of injections was 69(2.2％).SRs occurred in 21 children(14.3％),and the number of injections was 34(1.1％).No grade Ⅲ or Ⅳ SRs occurred.In the logistic regression analysis,body mass index(BMI)was a risk factor for LRs(OR:2.220,95％CI:1.009-4.887,P=0.048).CONCLUSION SCIT demonstrates significant early efficacy and a favorable safety profile safety in children with AR.Serum Vitamin D3 deficiency can affect the short-term efficacy of SCIT.Overweight and obese children are prone to develop local adverse reactions.

ObjectiveTo observe the clinical efficacy and safety of traditional Chinese medicine （TCM） triple therapy in the treatment of spontaneous bacterial peritonitis （SBP） with damp-heat stagnation and toxin-blood stasis syndrome in liver cirrhosis patients， and to explore its potential mechanisms of action. MethodsEighty-six patients were randomly divided into the experimental group and the control group， with 43 patients in each group. Both groups received standard western medicine treatment， while the experimental group additionally received TCM triple therapy， including oral Qingre Liangxue Jiedu Decoction （清热凉血解毒汤）， retention enema with Dachengi Decoction （大承气汤）， and abdominal application of Qingre Zhitong Lishui Fomulation （清热止痛利水方） with lotus leaf. Both groups were treated for 2 weeks. Before and after treatment， various indicators were measured， such as TCM syndrome scores， ascites volume measured by abdominal ultrasound， liver function indicators including total bilirubin （TBIL）， alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， and albumin （ALB）， infection markers， including neutrophil percentage （NEUT%）， C-reactive protein （CRP）， and procalcitonin （PCT）， inflammatory factors， such as tumor necrosis factor-alpha （TNF-ɑ）， interleukin-6 （IL-6）， and interleukin-10 （IL-10）， intestinal mucosal barrier function markers， including endotoxin （ET）， diamine oxidase （DAO）， D-lactic acid （D-Lac）， occludin， and zonula occludens-1 （ZO-1）， and peritoneal polymorphonuclear （PMN） cell counts at 72 hours post-treatment. ResultsA total of 82 patients were included in the final analysis， with 41 patients in each group. The total effective rate for TCM syndrome in the experimental group was 92.68% （38/41）， which was significantly higher than the 80.49% （33/41） in the control group （P＜0.05）. Compared with pre-treatment values， both groups showed significant reductions in TCM syndrome scores， ascites volume， TBIL， ALT， AST， NEUT%， CRP， PCT， TNF-α， IL-6， ET， DAO， D-Lac， Occludin， and ZO-1， with an increase in IL-10 levels and a decrease in PMN count in ascites 72 hours post-treatment （P＜0.05）. Furthermore， the experimental group outperformed the control group in all the above indicators after treatment （P＜0.05）. The disappearance time of fever and abdominal pain was shorter in the experimental group than in the control group （P＜0.01）. There were no significant changes in routine urine and stool tests， renal function， electrolytes， or electrocardiogram in either group compared with pre-treatment values. ConclusionTCM triple therapy in addition to western medicine routine treatment could significantly improves clinical symptoms in patients with liver cirrhosis and SBP with damp-heat stagnation and toxin-blood stasis syndrome， alleviates liver inflammation， improves liver function， accelerates the resolution of ascites， and increases clinical efficacy. The potential mechanism may be related to the regulation of the inflammatory response and the promotion of intestinal mucosal barrier repair.

Objective:To evaluate the feasibility, safety, and clinical outcomes of full-time full-endoscopic lumbar interbody fusion (FELIF) using a bladed retractor fusion channel (BRFC) system with reversed-mounting designed instruments compared to a tubular fusion channel (TFC).Methods:This retrospective study analyzed 101 cases of uniportal coaxial endoscopic lumbar interbody fusion performed between June 2018 and April 2023. Based on the type of fusion channel utilized, patients were divided into the TFC group (59 cases) and the BRFC group (42 cases). The BRFC technique involved neurological decompression, endplate preparation, and interbody fusion performed under full-time endoscopic monitoring with reversed-mounting designed instruments. Key parameters, including surgery duration, intraoperative estimated blood loss (IEBL), complication incidence, and interbody fusion rate (assessed by Bridwell criteria), were compared between the two groups. Clinical outcomes, including visual analog scale (VAS) scores for back and leg pain, Japanese Orthopaedic Association (JOA) scores, and Oswestry Disability Index (ODI), were recorded preoperatively, postoperatively, and at the final follow-up. Additionally, disc height at the fusion level was measured at one week postoperatively.Results:The mean follow-up duration was 42.9±12.1 months in the TFC group and 20.9±4.9 months in the BRFC group. No statistically significant differences were observed between the two groups in terms of surgery duration, IEBL, complication incidence, or interbody fusion rate (Grade 1 or 2 by Bridwell criteria) ( P>0.05). For single-level cases, the TFC group showed significantly better short-term clinical outcomes than the BRFC group at one week postoperatively, with JOA scores of 23(20, 25) versus 20(18, 23) ( Z=3.020, P=0.003) and ODI scores of 16%(11%, 21%) versus 28%(21%, 41%) ( Z=4.740, P<0.001). For double-level cases, the JOA score in the TFC group [23(20, 25)] was also significantly better than that in the BRFC group [20(18, 21)] ( Z=2.054, P=0.040) at one week postoperatively. However, at the final follow-up, all clinical indicators showed no significant differences between the two groups ( P>0.05). The disc height at the fusion level significantly increased at one week postoperatively compared to preoperative measurements in both groups ( P<0.05). However, the BRFC group demonstrated a significantly more recovery of disc height at one week postoperatively [(1.46±0.28) cm] compared to the TFC group [(1.17±0.20) cm] ( t=5.947, P<0.001). Conclusion:Full-time FELIF using the BRFC system and reversed-mounting designed instruments is a feasible, safe, and effective approach. However, its short-term clinical outcomes appear inferior to traditional FELIF using the TFC system.